rs11174782 (AVPR1A): Chronotype and Sleep Timing
Key takeaways
- rs11174782 near AVPR1A is one of 351 variants linked to whether you are a morning or evening person, found in a study of nearly 700,000 people.
- People carrying the most morningness alleles across this set of variants sleep about 25 minutes earlier on average than those carrying the fewest.
- Causal analysis suggests being a morning person is linked to better mental health, with no detected effect on BMI or diabetes risk.
- In testis tissue, the effect allele at this variant is associated with increased expression of a nearby gene, though the health implications are not established.
- No individual effect size for rs11174782 was reported - evidence at the single-variant level is preliminary.
Key takeaways
- rs11174782 near AVPR1A is one of 351 variants linked to whether you are a morning or evening person, found in a study of nearly 700,000 people.
- People carrying the most morningness alleles across this set of variants sleep about 25 minutes earlier on average than those carrying the fewest.
- Causal analysis suggests being a morning person is linked to better mental health, with no detected effect on BMI or diabetes risk.
- In testis tissue, the effect allele at this variant is associated with increased expression of a nearby gene, though the health implications are not established.
- No individual effect size for rs11174782 was reported - evidence at the single-variant level is preliminary.
What the research says A genome-wide association study (GWAS) meta-analysis of 697,828 individuals from UK Biobank and 23andMe identified rs11174782, near the RSL24D1P5 pseudogene and AVPR1A (arginine vasopressin receptor 1A), as one of 351 loci associated with chronotype - a person's natural preference for morning or evening activity. The loci were enriched for genes involved in circadian regulation, cAMP, glutamate, and insulin signalling pathways, and for genes expressed in the retina, hindbrain, hypothalamus, and pituitary. Using Mendelian Randomisation - a statistical method that uses genetic variants as instruments to test causal relationships, reducing bias from confounding and reverse causality - the researchers found evidence that being a morning person is causally associated with better mental health outcomes, while no causal effect was detected for BMI or Type 2 diabetes risk.
Reported associations
- Chronotype (morning/evening preference): rs11174782 is one of 351 genome-wide significant loci for self-reported chronotype identified across 697,828 participants; the study did not report an individual odds ratio or beta coefficient for this specific variant.
- Objective sleep timing: Across the full set of chronotype loci collectively, individuals in the top 5% for morningness alleles had a mean sleep timing approximately 25 minutes earlier than those in the bottom 5%, validated using activity-monitor data from 85,760 UK Biobank participants.
- Mental health (Mendelian Randomisation estimate): Causal analysis using chronotype-associated loci as genetic instruments found evidence that being a morning person is causally associated with better mental health; this is a group-level causal estimate across the instrument set, not a per-variant finding.
Evidence quality The GWAS that flagged this locus enrolled 697,828 individuals, placing it among the largest chronotype studies conducted to date. Findings were further validated in 85,760 UK Biobank participants using objective wrist-worn accelerometers, and the chronotype signal was confirmed to associate with sleep timing but not sleep duration or quality. No individual p-value or effect size for rs11174782 was provided in the available study materials, and no targeted replication of this single variant was described. Although the overall GWAS is well-powered, evidence at the single-variant level should therefore be treated as preliminary.
Tissue-specific expression effects
- ENSG00000257779: The ALT allele at rs11174782 is associated with increased expression in testis tissue, based on GTEx v11 data from 953 donors (FDR < 0.05). This is a gene-expression effect and does not directly indicate a health outcome. GTEx Portal
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does the AVPR1A gene do?
AVPR1A encodes the arginine vasopressin receptor 1A, a protein that responds to the hormone vasopressin and plays roles in circadian timing, social behavior, and cardiovascular regulation. Its proximity to rs11174782 makes it a candidate gene for the observed chronotype association.
Is rs11174782 linked to being a morning or evening person?
Yes - rs11174782 was one of 351 genetic variants associated with chronotype (morning or evening preference) in a genome-wide study of 697,828 people. No individual effect size was reported for this specific variant, so the precise magnitude of its contribution is not known from the available data.
Does being a morning person affect health risks like diabetes or obesity?
Based on the large GWAS that identified this variant, causal analyses found no effect of morning chronotype on BMI or Type 2 diabetes risk. However, being a morning person was causally associated with better mental health outcomes in the same analysis.
What does the GTEx data show for rs11174782?
GTEx v11 data from 953 donors shows that the effect allele at rs11174782 is associated with increased expression of gene ENSG00000257779 in testis tissue. This is an expression-level finding describing a gene-regulation effect, not a direct health outcome.
How strong is the evidence for rs11174782?
The GWAS that identified this variant enrolled nearly 700,000 people and validated results with objective sleep data from 85,760 participants, giving it strong overall statistical power. However, no individual effect size or replication data for rs11174782 specifically was provided, so single-variant evidence remains preliminary.